Department of Dermatology and Cutaneous Biology/Jefferson Center for International Dermatology, Jefferson Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania.
J Am Acad Dermatol. 2011 Oct;65(4):843-850. doi: 10.1016/j.jaad.2010.09.715. Epub 2011 May 6.
Hereditary angioedema (HAE) is a relatively rare, but potentially life-threatening genetic disorder characterized by marked, diffuse mucosal edema that, in extreme cases, can affect the airway leading to asphyxiation. The clinical picture is similar to that of other forms of angioedema; therefore, misdiagnosis or delayed diagnosis is common. HAE is caused by a deficiency in, or a dysfunction of, C1 esterase inhibitor, which has a wide variety of physiologic functions, of which regulation of the contact (kallikrein-kinin) system is most relevant to this condition. Effective management of HAE must consider routine/long-term prophylaxis, short-term prophylaxis (in advance of predicted trauma, eg, surgical or dental procedures), and treatment of acute attacks. Historically, treatment options have been limited to controlling symptoms, but progress in understanding the pathophysiology of HAE has facilitated development of treatments, such as C1 inhibitor therapy, or drugs targeted at the bradykinin pathway, which address the underlying pathologic process.
遗传性血管性水肿（HAE）是一种相对罕见但潜在危及生命的遗传性疾病，其特征为明显、弥漫性黏膜水肿，在极端情况下，可能会影响气道导致窒息。临床表现与其他类型血管性水肿相似；因此，误诊或延迟诊断较为常见。HAE 是由于 C1 酯酶抑制剂缺乏或功能障碍引起的，该抑制剂具有广泛的生理功能，其中对接触（激肽释放酶-激肽）系统的调节与该病症最为相关。HAE 的有效管理必须考虑常规/长期预防、短期预防（在预测创伤之前，如手术或牙科手术），以及急性发作的治疗。从历史上看，治疗选择一直限于控制症状，但对 HAE 病理生理学的理解进展促进了治疗方法的发展，如 C1 抑制剂治疗或针对缓激肽途径的药物，这些方法可针对潜在的病理过程。
